A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy

Endoplasmic Reticulum Protein Quality Control Failure in Myelin Disorders

(2017) Vera G. Volpi et al.   Frontiers in Molecular Neuroscience

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

(2016) Tamar Harel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The role of endoplasmic reticulum stress in neurodegenerative disease

(2016) Chunchen Xiang et al.   APOPTOSIS

SLC25A46is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome

(2016) Alexandre Janer et al.   EMBO Molecular Medicine

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

A Conserved Endoplasmic Reticulum Membrane Protein Complex (EMC) Facilitates Phospholipid Transfer from the ER to Mitochondria

(2014) Sujoy Lahiri et al.   PLOS BIOLOGY

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

(2012) L. Abu-Safieh et al.   GENOME RESEARCH

Inhibition of Endoplasmic Reticulum-associated Degradation Rescues Native Folding in Loss of Function Protein Misfolding Diseases

(2011) Fan Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Defining human ERAD networks through an integrative mapping strategy

(2011) John C. Christianson et al.   NATURE CELL BIOLOGY

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Comprehensive Characterization of Genes Required for Protein Folding in the Endoplasmic Reticulum

(2009) M. C. Jonikas et al.   SCIENCE

Making sense of nonsense GABAA receptor mutations associated with genetic epilepsies

(2009) Jing-Qiong Kang et al.   TRENDS IN MOLECULAR MEDICINE